Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397507444 0.405 0.880 1 11794407 missense variant T/G snv 306
rs1131691014 0.439 0.800 17 7676154 frameshift variant -/C ins 214
rs878854066 0.439 0.800 17 7676153 missense variant GG/AC mnv 213
rs2736100 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs121913682
KIT
0.605 0.400 4 54733167 missense variant A/G;T snv 52
rs121913507
KIT
0.614 0.400 4 54733155 missense variant A/T snv 49
rs61764370 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs121913250 0.683 0.440 1 114716127 missense variant C/A;G;T snv 25
rs121913459 0.672 0.160 9 130872896 missense variant C/T snv 25
rs776746 0.724 0.400 7 99672916 splice acceptor variant T/C snv 0.72 21
rs1239681664 0.716 0.320 9 104818690 synonymous variant A/G snv 7.0E-06 15
rs796065343 0.776 0.080 1 36467833 missense variant G/A snv 12
rs121913370 0.763 0.360 7 140753393 missense variant T/C;G snv 10
rs1190999960 0.807 0.240 11 65571690 missense variant G/A snv 9
rs12343867 0.790 0.200 9 5074189 intron variant T/C snv 0.25 9
rs636832 0.790 0.400 1 35897874 intron variant G/A snv 0.23 8
rs121908587 0.827 0.120 4 54278380 missense variant C/T snv 6
rs387906517 0.827 0.120 9 130862919 missense variant G/A snv 6
rs121913448 0.827 0.120 9 130862976 missense variant G/A snv 5
rs121913461 0.851 0.120 9 130862970 missense variant T/C snv 5
rs267607040 0.851 0.320 18 44951948 missense variant G/A snv 5
rs267607042 0.851 0.320 18 44951942 missense variant G/A;C snv 5
rs6503691 0.827 0.200 17 42242072 intron variant C/T snv 0.26 5
rs1057519773 0.851 0.160 9 130872901 missense variant T/A;C;G snv 4
rs1060500091 0.882 0.120 3 128481887 missense variant A/C snv 4